Canonical Allele Identifier: CA934688739

Gene: HBD

Linked Data

• dbSNP Id: rs1304974983
• gnomAD v3: 11-5234574-T-C
• gnomAD v4: 11-5234574-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5234574T>C , CM000673.2:g.5234574T>C	GRCh38
NC_000011.9:g.5255804T>C , CM000673.1:g.5255804T>C	GRCh37
NC_000011.8:g.5212380T>C	NCBI36
NG_000007.3:g.63042A>G
NG_063112.2:g.14084A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000643122.1:c.-28-113A>G	ENSP00000494708.1:n.-28-113A>G
ENST00000380299.3:c.-141A>G	ENSP00000369654.3:n.-141A>G
ENST00000429817.1:c.-97-44A>G	ENSP00000393810.1:n.-97-44A>G
NM_000519.3:c.-141A>G	NP_000510.1:n.-141A>G